Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ALG13 gene has been observed to be associated with FSGS, but this result is not yet independently confirmed.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
de Ligt J et al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability. 
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| 2. |
Esposito T et al. (2013) Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
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| 3. |
Gao XD et al. (2005) Alg14 recruits Alg13 to the cytoplasmic face of the endoplasmic reticulum to form a novel bipartite UDP-N-acetylglucosamine transferase required for the second step of N-linked glycosylation.
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| 4. |
Averbeck N et al. (2007) Membrane topology of the Alg14 endoplasmic reticulum UDP-GlcNAc transferase subunit.
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| 5. |
Timal S et al. (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
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| 6. |
et al. (2013) De novo mutations in epileptic encephalopathies.
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| 7. |
Michaud JL et al. (2014) The genetic landscape of infantile spasms.
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| 8. |
Dimassi S et al. (2016) Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
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| 9. |
NCBI article NCBI 79868
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| 10. |
OMIM.ORG article Omim 300776
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| 11. |
Orphanet article Orphanet ID 327338
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| 12. |
Wikipedia article Wikipedia EN (ALG13)
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